Study of the genotypic and phenotypic spectrum, and natural history of spinocerebellar ataxia 27B |
Bernard Brais |
Spinocerebellar Ataxia 27B |
Dentatorubral-pallidoluysian atrophy Natural History and Biomarkers Study (DRPLA NHBS) |
Silvia Prades |
DRPLA |
Trial readiness in POLG-associated ataxia |
Friedemann Bender, Ludger Schöls |
POLG-associated ataxia |
CACNA1A-related ataxia: functional characterization of clinically severe variants for drug repurposing |
Enrico Bertini, Ginevra Zanni |
CACNA1A-related ataxia |
Genetic modifiers of the CANVAS (RFC1 expansion) and other recessive repeat expansion disorders |
Andrea Cortese, Henry Houlden |
CANVAS and FRDA |
PrePolyQ-SCA: characterization of the presymptomatic stage in polyglutamine SCAs |
Jennifer Faber |
SCA1, 2, 3, 6 |
IDEA-Instrumented Data Exchange for Ataxia |
Christopher Gomez, Fay Horak, James McNames |
All SCAs & ARCAs |
Identifying new repeat expansions and structural variants in autosomal dominant cerebellar ataxias |
Holger Hengel |
ADCA (unsolved, SCA10, 31, 36, & 37) |
Worldwide evaluation of PROM ataxia in genetic ataxias |
Heike Jacobi, Jennifer Faber |
Patients with the most frequent genetically confirmed ataxias. |
Interaction between genes, caffeine and tobacco use as factors for the onset of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 |
Laura Bannach Jardim |
SCA3 in Canada and Brazil |
PAHAN survey: access of patients with hereditary ataxias to diagnosis and management in the American continents and the Caribbean |
Laura Bannach Jardim |
All hereditary ataxias |
SARAglobal: Development and validation of an improved version of SARA |
Thomas Klockgether |
EUROSCA, RISCA, ESMI |
Functional characterization and rehabilitative approach on rare autosomal recessive ataxias |
Andrea Martinuzzi |
Patients with molecularly characterized rare ARCA |
Stem cell models of ARCAs to understand pathogenic, therapeutically tractable mechanisms |
Andrea Nemeth |
ADCA (unsolved, SCA10, 31, 36, & 37) |
Identification and characterization of biomarkers from blood plasma and CSF of spinocerebellar ataxia-1 (SCA1) patients: alignment with imaging and natural history studies |
Puneet Opal |
SCA1 (could be extended to SCA2, 3, and 7) |
Pre-FA: a clinical and biomarker study of asymptomatic individuals at risk of developing Friedreich ataxia |
Massimo Pandolfo |
Individuals at risk for FA |
The upper limb cardiopulmonary exercise test in autosomal recessive ataxias |
Francesco Saccà |
ARCA2, ARCA3, ARSACS, SPG7 |
Stratifying SCA3 patients towards individualized treatment |
Thorsten Schmidt |
SCA3 |
PROSPAX: an integrated multimodal progression chart in spastic ataxias (ARSACS, SPG7) |
Rebecca Schüle |
SPG7, ARSACS |
CSF levels of poly(ADP-ribose) as a biomarker for monitoring DNA strand breaks and neurological dysfunction in polyglutamine SCAs |
Vikram Shakkottai |
AT, ATLD, AOA1, AOA2, ARSACS, SPG7, POLG |
RFC1: a global multicenter multimodal natural history, clinical outcome and biomarker study, based on the ARCA registry |
Andreas Traschütz |
RFC1 |
Speech-ATAXIA: a multinational, multilanguage consortia for speech in hereditary ataxias |
Adam Vogel |
All SCAs and ARCAs |